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3,464 results
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Methylation-specific PCR simplifies imprinting analysis.
Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Kubota T, et al. Nat Genet. 1997 May;16(1):16-7. doi: 10.1038/ng0597-15. Nat Genet. 1997. PMID: 9140389 No abstract available.
Mosaic and polymorphic imprinting of the WT1 gene in humans.
Jinno Y, Yun K, Nishiwaki K, Kubota T, Ogawa O, Reeve AE, Niikawa N. Jinno Y, et al. Among authors: kubota t. Nat Genet. 1994 Mar;6(3):305-9. doi: 10.1038/ng0394-305. Nat Genet. 1994. PMID: 8012395
Methylation analysis of the fragile X syndrome by PCR.
Das S, Kubota T, Song M, Daniel R, Berry-Kravis EM, Prior TW, Popovich B, Rosser L, Arinami T, Ledbetter DH. Das S, et al. Among authors: kubota t. Genet Test. 1997-1998;1(3):151-5. doi: 10.1089/gte.1997.1.151. Genet Test. 1997. PMID: 10464640
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.
Kubota T, Nonoyama S, Tonoki H, Masuno M, Imaizumi K, Kojima M, Wakui K, Shimadzu M, Fukushima Y. Kubota T, et al. Hum Genet. 1999 Jan;104(1):49-55. doi: 10.1007/s004390050909. Hum Genet. 1999. PMID: 10071192
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH. Kubota T, et al. J Med Genet. 1996 Dec;33(12):1011-4. doi: 10.1136/jmg.33.12.1011. J Med Genet. 1996. PMID: 9004133 Free PMC article.
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH. Kubota T, et al. Am J Med Genet. 1996 Dec 2;66(1):77-80. doi: 10.1002/(SICI)1096-8628(19961202)66:1<77::AID-AJMG18>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8957518
'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation.
Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T. Matsumura M, et al. Among authors: kubota t. Clin Genet. 2003 Jan;63(1):79-81. doi: 10.1034/j.1399-0004.2003.630114.x. Clin Genet. 2003. PMID: 12519378 No abstract available.
A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.
Butler MG, Christian SL, Kubota T, Ledbetter DH. Butler MG, et al. Among authors: kubota t. Am J Med Genet. 1996 Oct 16;65(2):137-41. doi: 10.1002/(SICI)1096-8628(19961016)65:2<137::AID-AJMG11>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8911606 Free PMC article.
The spectrum of mutations in UBE3A causing Angelman syndrome.
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. Fang P, et al. Among authors: kubota t. Hum Mol Genet. 1999 Jan;8(1):129-35. doi: 10.1093/hmg/8.1.129. Hum Mol Genet. 1999. PMID: 9887341
GABAA receptor beta 3 subunit gene is possibly paternally imprinted in humans.
Kubota T, Niikawa N, Jinno Y, Ishimaru T. Kubota T, et al. Am J Med Genet. 1994 Feb 15;49(4):452-3. doi: 10.1002/ajmg.1320490422. Am J Med Genet. 1994. PMID: 8160743 No abstract available.
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